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Article

Identifying novel heterozygous PI4KA variants in fetal abnormalities.

BMC medical genomics - 30 Jan 2025

Cheng Chen, Yang Fan, Chen Xinlin, Zhao Sheng

Abstract excerpt

BACKGROUND: The clinical manifestations of PI4KA-related disorders are characterized by considerable variability, predominantly featuring neurological impairments, gastrointestinal symptoms, and a combined immunodeficiency. The aim of this study was to delineate the novel spectrum of PI4KA variants detected prenatally and to assess their influence on fetal development. METHODS: A thorough fetal ultrasound...

Read the complete abstract on PubMed

Topics

Adult
Female
Humans
Pregnancy
Fetus
Heterozygote
Magnetic Resonance Imaging
Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

RNA Splicing

Ultrasonography, Prenatal

Phosphotransferases (Alcohol Group Acceptor)

Minor Histocompatibility Antigens

Source

Open in PubMed Open full text

Identifiers

PMID: 39885450
DOI: 10.1186/s12920-025-02093-9
PMCID: PMC11783698

Genes

PI4KA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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